Results 71 to 80 of about 2,067 (196)

Benign external hydrocephalus: a review, with emphasis on management [PDF]

, 2011
Benign external hydrocephalus in infants, characterized by macrocephaly and typical neuroimaging findings, is considered as a self-limiting condition and is therefore rarely treated.
Zahl, Sverre Morten, Egge, Arild, Helseth, Eirik, Wester, Knut   +3 more
core   +2 more sources

Anatomy and mobility in the adult cadaveric craniocervical junction 

Journal of Morphology, Volume 285, Issue 7, July 2024.
The motivation of the present study was to understand the morphological and functional basis of motion in the adult craniocervical junction, in the hope to find morphological features accessible from medical imaging able to predict mobility. We compared a wide range of mobility variables extracted from an experimental setup, with the shape of the ...
Maxime Taverne, Laura Lalieve, Sylvain Persohn, Roman Hossein Khonsari, Giovanna Paternoster, Syril James, Thomas Blauwblomme, Sandro Benichi, Sébastien Laporte   +8 more
wiley   +1 more source

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. [PDF]

, 2017
We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan ...
Bortolomai, I., Bosticardo, M., Brauer, P.M., Buoncompagni, A., Capuder, K., Di Rocco, M., Dobbs, K., Du, L., Felgentreff, K., Freedman, G., Giliani, S., Hagedorn, E.J., Hayashida, A., Hayashida, K., Imberti, L., Lee, H., Linhardt, R.J., Luche, N., Manis, J., Marcovecchio, G.E., Martini, A., Notarangelo, L.D., Ott de Bruin, L., Park, P.W., Poliani, P.L., Poulain, F.E., Puck, J.M., Rath, P., Rivolta, C., Rosenzweig, S.D., Royer-Bertrand, B., Slavotinek, A., Sun Kuehn, H., Superti-Furga, A., van Rooijen, E., Volpi, S., Yamazaki, Y., Zon, L., Zúñiga-Pflücker, J.C.   +38 more
core   +4 more sources

Prevalence of craniosynostosis in Finland, 1987–2010: A population‐based study

Birth Defects Research, Volume 116, Issue 2, February 2024.
Abstract Background Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population‐based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends.
Pia Vuola, Niklas Pakkasjärvi, Annukka Ritvanen, Arja Heliövaara, Erkki Tukiainen, Mika Gissler   +5 more
wiley   +1 more source

“Heal the sick”: Health status and caregiving during the 17th–18th century in Northern Italy (St. Biagio cemetery, Ravenna)

American Journal of Biological Anthropology, Volume 183, Issue 1, Page 125-140, January 2024.
Abstract Objective The study of health‐related care provision in archeology gives important indications on the culture and community organization of past populations. This study aims to assess the health status of the skeletal assemblage recovered from the burial site of St. Biagio (Ravenna, 17th–18th Centuries); next, we identified likely instances of
Federica De Luca, Alba Pasini, Filippo Scianò, Nicoletta Zedda, Chiara Guarnieri, Sabrina Masotti, Barbara Bramanti, Emanuela Gualdi‐Russo, Natascia Rinaldo   +8 more
wiley   +1 more source

Psychological adjustment to craniofacial conditions (excluding oral clefts): A review of the literature [PDF]

, 2016
© 2016 Informa UK Limited, trading as Taylor & Francis Group. Objective: A congenital craniofacial anomaly (CFA) is expected to impact upon several domains of psychological, emotional and social functioning, yet no recent reviews have comprehensively ...
Feragen, Kristin Billaud, Stock, Nicola Marie   +1 more
core   +1 more source

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

Frontiers in Genetics, 2020
BackgroundDefects in the development of the first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses (FDs).
Ewelina Bukowska-Olech, Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Grzegorz Koczyk, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer, Aleksander Jamsheer   +12 more
doaj   +1 more source

[Metotopic craniosynostoses].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2001
Premature closure of the metopic suture leads to inhibited growth of the frontal bones, producing a keel-shaped forehead (trigonocephaly). Simple metopic synostosis is usually sporadic. Trigonocephalic patients account for 8-16% of the referrals to craniofacial centers, with a marked male predominance.
T R, Meling, B J, Due-Tønnessen, E, Helseth   +2 more
openaire   +1 more source

Outcomes of 40 Nonsyndromic Sagittal Craniosynostosis Patients as Adults : A Case-Control Study With 26 Years of Postoperative Follow-up [PDF]

, 2018
Background: While sagittal synostosis is the most common craniosynostosis, long-term follow-up of these patients is lacking.Objective: To evaluate the results of surgical management of those patients with sagittal synostosis who attain adulthood.Methods:
Pirttiniemi, Pertti, Salokorpi, Niina, Savolainen, Tuula, Serlo, Willy, Sinikumpu, Juha-Jaakko, Sándor, George K., Ylikontiola, Leena   +6 more
core   +1 more source

Idade e indicações de osteotomias para avanço frontofacial em pacientes com craniossinostoses sindrômicas Age and indications for osteotomy for frontofacial advancement in patients with syndromic craniosynostosis

Revista Brasileira de Cirurgia Plástica, 2012
INTRODUÇÃO: Desde o início da Cirurgia Craniofacial, muitos desafios foram ultrapassados. Problemas operatórios técnicos e de infraestrutura básica de atendimento especializado foram solucionados.
Nivaldo Alonso, Hamilton Matushita, Dov Charles Goldenberg, Endrigo Oliveira Bastos   +3 more
doaj   +1 more source